genomics Flashcards
what is genetics
the study of heredity
what is genomics
structural and functional mapping of genomes and their evolution
what is a gene
basic physical and functional unit of heredity
4 things genomics allows us to do
functional studies
tracking viral infections/variants
tracking gene transfer
tracking drug resistance
how is dna stored within cell
chromatin- condenses into chromosomes
name the 4 bases
a= adenine
g=guanine
t= thymine
c= cytosine
what are 3 nucleotides called
codon
what is exon
protein coding region of dna strand
what is intron
non-coding region of dna strand
name 4 structural proteins
1.collagen
2.elastin
3.keratin
4.desmoglein
name 4 functional proteins
1.enzymes
2.ion channels
3. neurotransmitter receptors
4.antibodies
name 2 ways proteins are formed
alternative gene splicing
post-traditional modification
what is a pseudogene
non-functional gene / damaged
what is a genotype
someone’s complete set of genetic material including the various variant genes that they carry
give 2 overall reasons for variation
- sexual reproduction
- random mutations
give 2 physical types of variant
- single nucleotide variants
2.INDELS- insertions and deletions
name 2 types of single nucleotide variants
- missense mutation- single nucleotide been substituted for a different one
2.nonsense mutation- single nucleotide subbed and changed cause pseudogene
give 3 structural variations
translocations- chromosomal abnormalities
inversions- reversal of genetic coding
large deletions- >1000 basepairs
what is bioinformatics
analysis, storage, annotation and retrieval of genomic data
what is an example of genetic testing
blood tests
3 uses of bioinformatics in healthcare
identify individual risk factors
promote early diagnosis
inform strategies for conventional treatments
